CIViC Evidence Items

4766 evidence items indexed

Evidence Level Distribution

CIViC evidence levels reflect study design quality, from A (strongest) to E (weakest).

AValidated — meta-analysis, systematic review, or major guideline

BClinical — prospective trial or retrospective cohort study

CCase study — single case report or small case series

DPreclinical — in vitro or animal model data

EInferential — computational prediction or biological rationale

Gene × Evidence Type

Count of CIViC evidence items per gene and evidence type category. Hover a column header for the type definition.

	Predictive	Diagnostic	Prognostic	Functional	Predispos.	Oncogenic
BCR::ABL1	323	11
BRAF	186	4	26	2		1
EGFR	248		12	3		2
EML4::ALK	64
ERBB2	142		2
FLT3	55	2	21
KIT	102	3	7
KRAS	159	4	24			4
PIK3CA	156		16	4
PTEN	53	1	3	1	2	1
TP53	52		40	100	2
VHL	5	2	3		635	15

Predictive:Links a variant to treatment response or resistance

Diagnostic:Supports or refutes a specific disease diagnosis

Prognostic:Informs disease progression or clinical outcome

Functional:Characterises the biological effect of a variant

Predisposing:Germline variant associated with cancer predisposition

Oncogenic:Characterises the variant's role in oncogenesis

Level	Gene	Variant	Type	Direction	Significance	Disease	Drugs	Source
B	DNMT3A	R882	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Ley et al., 2010
B	DNMT3A	R882	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Ley et al., 2010
B	DNMT3A	R882	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		El Ghannam et al., 2014
B	FLT3	ITD	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Ley et al., 2010
B	BRAF	V600E	Diagnostic	Supports	Positive	Papillary Thyroid Carcinoma		Crescenzi et al., 2014
B	BRAF	V600D	Predictive	Supports	Sensitivity/Response	Melanoma	Dabrafenib	Ponti et al., 2013
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Melanoma	Trametinib,Dabrafenib	Menzies et al., 2014
B	BRAF	V600E	Prognostic	Does Not Support	Poor Outcome	Papillary Thyroid Carcinoma		Walczyk et al., 2014
B	BRAF	V600E	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Chen et al., 2014
B	DNMT3A	R882	Diagnostic	Supports	Positive	Acute Myeloid Leukemia		Ley et al., 2010
A	NPM1	EXON 11 MUTATION	Diagnostic	Supports	Positive	Acute Myeloid Leukemia		Vardiman et al., 2009
B	NPM1	EXON 11 MUTATION	Prognostic	Supports	Better Outcome	Acute Myeloid Leukemia		Schnittger et al., 2005
A	EGFR	T790M	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Erlotinib	Denis et al., 2015
D	ERBB2	L755S	Predictive	Supports	Resistance	Breast Cancer	Lapatinib	Bose et al., 2013
A	BCR::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	Acute Myeloid Leukemia	Imatinib	Nimmanapalli et al., 2002
A	BCR::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	Chronic Myeloid Leukemia	Imatinib	An et al., 2010
D	ERBB2	G309A	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ERBB2	L755S	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ERBB2	L755W	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ERBB2	G778_P780dup	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ERBB2	R678Q	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib,Lapatinib	Bose et al., 2013
D	ERBB2	R896C	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ERBB2	V777L	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ERBB2	V842I	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Bose et al., 2013
D	ESR1	L536Q	Predictive	Supports	Sensitivity/Response	Breast Cancer	Tamoxifen,Fulvestrant	Robinson et al., 2013
D	ESR1	D538G	Predictive	Supports	Sensitivity/Response	Breast Cancer	Fulvestrant,Tamoxifen	Robinson et al., 2013
D	ESR1	Y537C	Predictive	Supports	Sensitivity/Response	Breast Cancer	Fulvestrant,Tamoxifen	Robinson et al., 2013
D	ESR1	Y537N	Predictive	Supports	Sensitivity/Response	Breast Cancer	Tamoxifen,Fulvestrant	Robinson et al., 2013
D	ESR1	Y537S	Predictive	Supports	Sensitivity/Response	Breast Cancer	Fulvestrant,Tamoxifen	Robinson et al., 2013
A	MGMT	Promoter Methylation	Predictive	Supports	Sensitivity/Response	Glioblastoma	Temozolomide	Hegi et al., 2005
B	PML::RARA	Fusion	Predictive	Supports	Sensitivity/Response	Acute Promyelocytic Leukemia	Tretinoin	Yoshida et al., 1996
A	BCR::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	Chronic Myeloid Leukemia	Imatinib	An et al., 2010
D	ATM	Underexpression	Predictive	Supports	Sensitivity/Response	Cancer	KU-0060648,NU7441	Riabinska et al., 2013
D	ATM	Mutation	Predictive	Supports	Sensitivity/Response	Hematologic Cancer	Olaparib	Weston et al., 2010
B	BAP1	Mutation	Prognostic	Supports	Poor Outcome	Clear Cell Renal Cell Carcinoma		Sato et al., 2013
B	BAP1	Mutation	Prognostic	Supports	Poor Outcome	Renal Cell Carcinoma		Sato et al., 2013
B	BAP1	Mutation	Prognostic	Supports	Poor Outcome	Clear Cell Renal Cell Carcinoma		2013, Nature
B	EWSR1::ERG	Fusion	Diagnostic	Supports	Positive	Ewing Sarcoma		Warren et al., 2013
B	EWSR1::FLI1	Fusion	Diagnostic	Supports	Positive	Ewing Sarcoma		Warren et al., 2013
B	IDH1	R132	Prognostic	Supports	Better Outcome	Glioblastoma		Yan et al., 2009
B	IDH1	R132	Prognostic	Supports	Better Outcome	Malignant Astrocytoma		Yan et al., 2009
B	IDH2	R172	Prognostic	Supports	Better Outcome	Glioblastoma		Yan et al., 2009
B	IDH2	R172	Prognostic	Supports	Better Outcome	Malignant Astrocytoma		Yan et al., 2009
C	KIT	V560DEL	Predictive	Supports	Sensitivity/Response	Thymic Carcinoma	Imatinib	Ströbel et al., 2004
B	MGMT	Promoter Methylation	Prognostic	Supports	Better Outcome	Glioblastoma		Hegi et al., 2005
B	SMARCA4	Mutation	Diagnostic	Supports	Positive	Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type		Jelinic et al., 2014
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Trastuzumab	Slamon et al., 2001
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Trastuzumab	Marty et al., 2005
B	CHEK2	Loss-of-function	Predisposing	Supports	Predisposition	Cancer		Bell et al., 1999
B	DNAJB1::PRKACA	Fusion	Diagnostic	Supports	Positive	Fibrolamellar Carcinoma		Graham et al., 2015

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